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| Deafness_IsolatedAndComplex v1.140 | KITLG | Zornitza Stark Phenotypes for gene: KITLG were changed from Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 to Waardenburg syndrome, MONDO:0018094, KITLG-related; Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.139 | KITLG | Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.138 | KITLG | Zornitza Stark Classified gene: KITLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.138 | KITLG | Zornitza Stark Gene: kitlg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.137 | KITLG | Dean Phelan reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 35543077, 28504826, 19375057, 21368769; Phenotypes: deafness, heterochromia iridis, hypopigmentation of the skin, hyperpigmentation of the skin, Waardenburg syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.149 | KIT | Zornitza Stark Marked gene: KIT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.149 | KIT | Zornitza Stark Gene: kit has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.149 | KIT | Zornitza Stark Classified gene: KIT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.149 | KIT | Zornitza Stark Gene: kit has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.148 | KIT |
Zornitza Stark gene: KIT was added gene: KIT was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Piebaldism, MIM# 172800 Review for gene: KIT was set to GREEN Added comment: Deafness described in a proportion of affected individuals. Sources: Expert list |
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| Deafness_IsolatedAndComplex v0.78 | KITLG | Zornitza Stark Marked gene: KITLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.78 | KITLG | Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.78 | KITLG | Zornitza Stark Classified gene: KITLG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.78 | KITLG | Zornitza Stark Gene: kitlg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v0.77 | KITLG |
Zornitza Stark gene: KITLG was added gene: KITLG was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KITLG were set to 26522471 Phenotypes for gene: KITLG were set to Deafness, autosomal dominant 69, unilateral or asymmetric, MIM# 616697 Review for gene: KITLG was set to AMBER Added comment: Two unrelated families, limited functional data. Sources: Expert list |
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